LOCUS       NM_001305942             924 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens coenzyme Q4 (COQ4), transcript variant 2, mRNA;
            nuclear gene for mitochondrial product.
ACCESSION   NM_001305942
VERSION     NM_001305942.2
KEYWORDS    RefSeq.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 924)
  AUTHORS   Pelosi,L., Morbiato,L., Burgardt,A., Tonello,F., Bartlett,A.K.,
            Guerra,R.M., Ferizhendi,K.K., Desbats,M.A., Rascalou,B., Marchi,M.,
            Vazquez-Fonseca,L., Agosto,C., Zanotti,G., Roger-Margueritat,M.,
            Alcazar-Fabra,M., Garcia-Corzo,L., Sanchez-Cuesta,A., Navas,P.,
            Brea-Calvo,G., Trevisson,E., Wendisch,V.F., Pagliarini,D.J.,
            Salviati,L. and Pierrel,F.
  TITLE     COQ4 is required for the oxidative decarboxylation of the C1 carbon
            of coenzyme Q in eukaryotic cells
  JOURNAL   Mol Cell 84 (5), 981-989 (2024)
   PUBMED   38295803
  REMARK    GeneRIF: COQ4 is required for the oxidative decarboxylation of the
            C1 carbon of coenzyme Q in eukaryotic cells.
REFERENCE   2  (bases 1 to 924)
  AUTHORS   Nicoll,C.R., Alvigini,L., Gottinger,A., Cecchini,D., Mannucci,B.,
            Corana,F., Mascotti,M.L. and Mattevi,A.
  TITLE     In vitro construction of the COQ metabolon unveils the molecular
            determinants of coenzyme Q biosynthesis
  JOURNAL   Nat Catal 7 (2), 148-160 (2024)
   PUBMED   38425362
REFERENCE   3  (bases 1 to 924)
  AUTHORS   Lin,X., Jiang,J.Y., Hong,D.J., Lin,K.J., Li,J.J., Chen,Y.J.,
            Qiu,Y.S., Wang,Z., Liao,Y.C., Yang,K., Shi,Y., Wang,M.W., Hsu,S.L.,
            Hong,S., Zeng,Y.H., Chen,X.C., Wang,N., Lee,Y.C. and Chen,W.J.
  TITLE     Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical
            and Molecular Characterization
  JOURNAL   Mov Disord 39 (1), 152-163 (2024)
   PUBMED   38014483
  REMARK    GeneRIF: Biallelic COQ4 Variants in Hereditary Spastic Paraplegia:
            Clinical and Molecular Characterization.
REFERENCE   4  (bases 1 to 924)
  AUTHORS   Brea-Calvo,G., Haack,T.B., Karall,D., Ohtake,A., Invernizzi,F.,
            Carrozzo,R., Kremer,L., Dusi,S., Fauth,C., Scholl-Burgi,S.,
            Graf,E., Ahting,U., Resta,N., Laforgia,N., Verrigni,D., Okazaki,Y.,
            Kohda,M., Martinelli,D., Freisinger,P., Strom,T.M., Meitinger,T.,
            Lamperti,C., Lacson,A., Navas,P., Mayr,J.A., Bertini,E.,
            Murayama,K., Zeviani,M., Prokisch,H. and Ghezzi,D.
  TITLE     COQ4 mutations cause a broad spectrum of mitochondrial disorders
            associated with CoQ10 deficiency
  JOURNAL   Am J Hum Genet 96 (2), 309-317 (2015)
   PUBMED   25658047
  REMARK    GeneRIF: COQ4 mutations cause a broad spectrum of mitochondrial
            disorders associated with CoQ10 deficiency.
REFERENCE   5  (bases 1 to 924)
  AUTHORS   Doimo,M., Desbats,M.A., Cerqua,C., Cassina,M., Trevisson,E. and
            Salviati,L.
  TITLE     Genetics of coenzyme q10 deficiency
  JOURNAL   Mol Syndromol 5 (3-4), 156-162 (2014)
   PUBMED   25126048
REFERENCE   6  (bases 1 to 924)
  AUTHORS   Salviati,L., Trevisson,E., Rodriguez Hernandez,M.A., Casarin,A.,
            Pertegato,V., Doimo,M., Cassina,M., Agosto,C., Desbats,M.A.,
            Sartori,G., Sacconi,S., Memo,L., Zuffardi,O., Artuch,R.,
            Quinzii,C., Dimauro,S., Hirano,M., Santos-Ocana,C. and Navas,P.
  TITLE     Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency
  JOURNAL   J Med Genet 49 (3), 187-191 (2012)
   PUBMED   22368301
  REMARK    GeneRIF: Haploinsufficiency in COQ4 resulted in reduced COQ4
            expression, CoQ10 content and biosynthetic rate, and activities of
            respiratory chain complex II+III.
REFERENCE   7  (bases 1 to 924)
  AUTHORS   Casarin,A., Jimenez-Ortega,J.C., Trevisson,E., Pertegato,V.,
            Doimo,M., Ferrero-Gomez,M.L., Abbadi,S., Artuch,R., Quinzii,C.,
            Hirano,M., Basso,G., Ocana,C.S., Navas,P. and Salviati,L.
  TITLE     Functional characterization of human COQ4, a gene required for
            Coenzyme Q10 biosynthesis
  JOURNAL   Biochem Biophys Res Commun 372 (1), 35-39 (2008)
   PUBMED   18474229
  REMARK    GeneRIF: Human ortholog of Saccharomyces cerevisiae COQ4 was cloned
            and characterized.
REFERENCE   8  (bases 1 to 924)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (bases 1 to 924)
  AUTHORS   Belogrudov,G.I., Lee,P.T., Jonassen,T., Hsu,A.Y., Gin,P. and
            Clarke,C.F.
  TITLE     Yeast COQ4 encodes a mitochondrial protein required for coenzyme Q
            synthesis
  JOURNAL   Arch Biochem Biophys 392 (1), 48-58 (2001)
   PUBMED   11469793
  REMARK    GeneRIF: homologous to Coq4p in S.cerevisiae
REFERENCE   10 (bases 1 to 924)
  AUTHORS   Salviati,L., Trevisson,E., Agosto,C., Doimo,M. and Navas,P.
  TITLE     Primary Coenzyme Q10 Deficiency Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   28125198
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359091.10.
            
            On May 31, 2019 this sequence version replaced NM_001305942.1.
            
            Summary: This gene encodes a component of the coenzyme Q
            biosynthesis pathway. Coenzyme Q, an essential component of the
            electron transport chain, shuttles electrons between complexes I or
            II to complex III of the mitochondrial transport chain. This
            protein appears to play a structural role in stabilizing a complex
            that contains most of the coenzyme Q biosynthesis enzymes.
            Mutations in this gene are associated with mitochondrial disorders
            linked to coenzyme Q deficiency. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Apr 2015].
            
            Transcript Variant: This variant (2) lacks several exons, one of
            which causes a frameshift in the 5' coding region compared to
            variant 1. It encodes isoform 2, which has a shorter and unique
            C-terminus compared to isoform 1.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: CB111694.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2149004
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: reported by MitoCarta
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-90                AL359091.10        22035-22124
            91-222              AL359091.10        22212-22343
            223-325             AL359091.10        24975-25077
            326-924             AL359091.10        32670-33268
FEATURES             Location/Qualifiers
     source          1..924
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..924
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /note="coenzyme Q4"
                     /db_xref="GeneID:51117"
                     /db_xref="HGNC:HGNC:19693"
                     /db_xref="MIM:612898"
     exon            1..90
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /inference="alignment:Splign:2.1.0"
     CDS             21..323
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; ubiquinone biosynthesis protein COQ4 homolog,
                     mitochondrial; coenzyme Q biosynthesis protein 4 homolog;
                     coenzyme Q4 homolog"
                     /codon_start=1
                     /product="ubiquinone biosynthesis protein COQ4 homolog,
                     mitochondrial isoform 2 precursor"
                     /protein_id="NP_001292871.2"
                     /db_xref="GeneID:51117"
                     /db_xref="HGNC:HGNC:19693"
                     /db_xref="MIM:612898"
                     /translation="MATLLRPVLRRLCGLPGLQRPAAEMPLRARSDGAGPLYSHHLPT
                     SPLQKGLLAAGSAAMALYNPYRHGSVPGFRHPPSTWASSRACRKAPSVASISVSWM"
     exon            91..222
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /inference="alignment:Splign:2.1.0"
     exon            223..325
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /inference="alignment:Splign:2.1.0"
     exon            326..924
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /inference="alignment:Splign:2.1.0"
     regulatory      902..907
                     /regulatory_class="polyA_signal_sequence"
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /note="hexamer: AATAAA"
     polyA_site      924
                     /gene="COQ4"
                     /gene_synonym="CGI-92; COQ10D7; SPAX10"
                     /note="major polyA site"
ORIGIN      
        1 ctccgcggac gcccgctgcc atggcgactc tgctgcgccc tgtcctccgt cggctctgcg
       61 ggctcccggg cctacagcgg cctgcggcag aaatgcccct ccgggctagg agcgacggcg
      121 ccggcccgct atactcgcac cacctcccca cctccccgct gcagaaaggg ctgttggccg
      181 ccggctccgc ggcgatggcg ctctataacc cctaccgcca cgggagcgtc cccggatttc
      241 gacatccacc ctcgacctgg gcaagctcca gagcctgccg gaaggctccc tcggtcgcga
      301 gtatctccgt ttcctggatg tgaacgagcc tgcaagtgct ggtctcggag ttgatcccat
      361 gggccgttca gaacgggcgc agagccccat gtgtcctcaa cctgtactat gagcggcgct
      421 gggagcagtc cctgagggct ctgcgggagg agctgggcat tacagcacca cccatgcacg
      481 tccagggctt ggcctgagct cctgagccag cggggcctgg cctacctccc ccatcccctg
      541 cttcccttgg aggcagaggg ctcccttgac tacctttgtt cctcttcttt gaacactgac
      601 ccttggacaa catttatcat aatttgtcat aaccactgct gagtggcctt gaggacgaac
      661 cccgcaggga gcaagcagta cagtggcatt cccaggggga ccagcagcta cccaaggaga
      721 accatgcatg aacagtatca gtcgtctggg ctcatgctgg gatgtcgcag tgctcctgtt
      781 gcaactcctc ccagccagcc aggtttgctg ggggccaggc tgggtgtcct cacaggagtg
      841 agggctacac ccaattccaa aagcctgaga agagagaagt ggagggggag gcgagtgtgt
      901 gaataaaggc tcccatcagg tcaa
//
